SNP Report

Name	rs2230912 dbSNP Ensembl
Location	Chrchr12:121622196(Forward)
Variant Alleles	A/G
Ancestral Allele	A
Annotation	3_prime_UTR_variant; missense_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant PolyPhen: benign(ENST00000328963, ENST00000535250, ENST00000541446, ENST00000546057) SIFT: tolerated(ENST00000328963, ENST00000535250, ENST00000541446, ENST00000546057)
Consequence to Transcript	3_prime_UTR_variant(ENST00000261826, ENST00000443520, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716) missense_variant(ENST00000328963, ENST00000535250, ENST00000541446, ENST00000546057) nc_transcript_variant(ENST00000539695) NMD_transcript_variant(ENST00000261826, ENST00000443520, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716) non_coding_exon_variant(ENST00000539695) upstream_gene_variant(ENST00000569999)
No. of Studies (Positive/Negative)	6 (3/3)

Reference	Research Type	Statistical Result	Relation Description
Lucae, 2006	patients and normal controls	P-value=0.0019	A non-synonymous coding SNP in the P2RX7 gene (rs2230912) wa...... A non-synonymous coding SNP in the P2RX7 gene (rs2230912) was significantly associated (P=0.0019) with MDD. More...
Bosker, 2010	patients and normal controls		Significance of candidate SNPs for MDD identified from the l...... Significance of candidate SNPs for MDD identified from the literature within the GAIN MDD GWAS More...

Name in Literature	Related Components
	Level	Approved Name(Name in Literature)	Type	Reference	Research Type	Statistical Result	Relation Description	All
rs2230912		Increased agitation(anxiety)	symptoms	Hejjas, 2009	patients and normal controls	P-value = 0.01	Both anxiety and depression scores increased as the number o...... Both anxiety and depression scores increased as the number of G-allele increased in the genotype groups (ANOVA for HADS-anxiety: P = 0.01, HADS-depression: P < 0.001) More...
rs2230912		Depressed mood(depression)	symptoms	Hejjas, 2009	patients and normal controls	P-value < 0.001	Both anxiety and depression scores increased as the number o...... Both anxiety and depression scores increased as the number of G-allele increased in the genotype groups (ANOVA for HADS-anxiety: P = 0.01, HADS-depression: P < 0.001) More...

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Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

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3. The network is generated using Cytoscape Web

Reference	Research Type	Statistical Result	Relation Description
Green EK, 2009	Patients and nomal controls		Neither rs2230912 nor any of 8 other SNPs genotyped across P...... Neither rs2230912 nor any of 8 other SNPs genotyped across P2RX7 was found to be associated with mood disorder in general, nor specifically with bipolar or unipolar disorder. More...
Grigoroiu-Serbanescu M, 2009	Patients and nomal controls		We found no allelic or genotypic association between rs22309...... We found no allelic or genotypic association between rs2230912 and BPI or Mdd-UP both in the national samples and in the combined European patient sample More...
Viikki M, 2011	Patients and nomal controls		There were no differences in allele or genotype frequencies ...... There were no differences in allele or genotype frequencies of either rs2230912 or rs208294 between patient groups and controls. Neither rs2230912 nor rs208294 was associated with MDD or remission after SSRI or ECT. More...

Approved Symbol	Approved Name	Type	No. of Studies (Positive/Negative)
P2RX7	purinergic receptor P2X, ligand-gated ion channel, 7	Literature-origin; SNP mapped	6(5/1)